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Malabsorption for the MRCP II Examination

Malabsorption may be due to defective luminal digestion, mucosal disease or structural


disorders.

Causes of Malabsorption

Small bowel (see below)


Pancreatic - Chronic pancreatitis
- Pancreatic carcinoma
Hepatobiliary - Cirrhosis of the liver
- Biliary obstruction of any type
Miscellaneous - Thyrotoxicosis
- Mesenteric ischaemia
- Drugs (neomycin, cholestyramine, antacids)

Clinical features

1. Diarrhoea/steatorrhoea

Steatorrhoea occurs as a result of defective fat absorption. It is most commonly caused by


pancreatic disorders. The stool is pale, bulky and malodorous.

Malabsorption occasionally occure without diarrhoea. This is most common in intestinal


causes.

2. Weight loss

3. General symptoms

Lassitude, abdominal discomfort/bloating.

4. Symptoms due to nutritional deficiency

e.g. oedema due to hypoalbuminaemia, bone pain/proxomal myopathy due to Vit. D


deficiency, aphtous ulcers due to Vit. B or iron deficiency.

Reproduced from A Rapid Review of Clinical Medicine by Sanjay Sharma, with kind
permission from Manson publishing.
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Investigations for malabsorption

General
Full blood count
Serum liver function tests (particularly albumin)
Serum calcium
Red cell folate and serum B12
Clotting
Thyroid function tests

Specific
Small bowel meal (diverticulae, fissures, fistulae, strictures, flocculation of barium)
Duodenal biopsy (partial or total villous atrophy)
Duodenal aspirate (Giardiasis, post infective malalbsorption)
Hydrogen breath tests
Pancreatic exocrine tests
Hepatobiliary ultrasound/ ERCP

Small Bowel Malabsorption Syndromes

Disorder Comments
Coeliac disease High anti gliadin or anti reticulin antibodies. Anti endomyosium
antibodies highly specific.
Dermatitis herpetiformis Gluten sensitive enteropathy. Associated subepidermal blistering
rash.
Bacterial overgrowth Low B12 but normal or high serum folate. Previous gastric sugery
(Billroth II), jejunal diverticuli.
Giardiasis May be detected on stool microscopy. Travel abroad or
immunosuppressed.
Whipples disease Associated locomotor /neurological/cardiac features. HLA B27. PAS
positive macrophages which contain the bacilli, T. whipelli on small
bowel biopsy.
Tropical sprue History of living in an endemic area for 3 months. Tx Tetracycline for
4 weeks and Folic acid for 2 months.
Radiation enteritis Previous history of abdominal irradiation.
Crohn's disease Abdominal pain/diarrhoea predominate. May have isolated B12
deficiency which is not corrected with intrinsic factor.
Hypogammaglobulinaemia Very similar to cystic fibrosis. Gut, respiratory and locomotor
involvement. Low globulins. Giardia infections common.
Zollinger Ellison Syndrome History of reccurrent peptic ulceration predominates.
Intestinal lymphangiectasia Hypoproteinaemia as a result of protein losing enteropathy and
steatorrhea. Associated immunoglbulin deficiency. Congenital
dilatation of small bowel lymphatics. May occur secondary to

Reproduced from A Rapid Review of Clinical Medicine by Sanjay Sharma, with kind
permission from Manson publishing.
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pericardial constriction or severe heart failure. Primary lymphatic
abnormalities elsewhere may lead to chylous pleural effusions and
chylous ascites.

Coeliac Disease

A variety of conditions produce malabsorption syndromes (see above table) but the
commonest cause of malabsorption by far in the Western world is Coeliac disease. It affects
1 in 2000 patients in the United Kingdom. It is even more common in Ireland, affecting 1 in
300. The disorder characterised by total villous atrophy in the small intestine as a result of
ingestion of gluten containing food.

The majority (80%) of patients have the haplotype HLA A1, B8, DR7, DQW2 suggesting a
genetic basis. There is 30% disconcordance amongst identical twins which suggests that non
genetic factors may also be involved.

Small bowel injury occurs as a result of gluten ingestion. Gluten is a high molecular weight
compound which contains various gliadins. a-gliadin damages small bowel mucosa in these
patients probably through an immune mediated mechanism. Anti gliadin antibodies are
strong evidence for this postulation. Small bowel damage produces malabsorption which
manifests as weight loss, abdominal pain, diarrhoea and nutritional deficiencies. Diarrhoea
may be absent in up to 20% of patients. The disease can present at any age. In children it
occurs soon after weaning and presents as failure to thrive. In adults it presents with
abdominal symptoms, weight loss and fatigue. Ankle oedema may complicate albumin
deficiciency. Mouth ulcers may occur as a result of iron deficiency. Osteomalacia, tetany and
muscle weakness may be present due to Vitamin D deficiency.

Anaemia is present in 50% of cases. Macrocytosis is invariably due to folate deficiency. Iron
deficiency is common but B12 deficiency is rare. Hypochromia and target cells may be
present on the blood film. Howell- Jolly bodies may be seen on the blood film in patients
who develop splenic atrophy. The diagnosis is made by sampling small bowel from the
second portion of the duodenum (D2 biopsy) via endoscopy or a jejunal biopsy which reveals
partial or total villous atrophy (slide). Anti endomyosoium antibodies are detected in almost
50% of all cases of Coeliac disease and are highly specific for the disorder. Anti gliadin
antibodies and antireticulin antibodies are found in the serum of the majority of patients.

Treatment is with a gluten free diet. Gluten is present in the cereals wheat, rye, barley and
oats. All of these should be excluded from the diet.

Associations of coeliac disease include autoimmune thyroid disorders, chronic liver disease,
fibrosing alveolitis, ulcerative colitis and insulin dependent diabetes mellitus. Complications
include small bowel lymphoma and adenocarcinoma and splenic atrophy.

Reproduced from A Rapid Review of Clinical Medicine by Sanjay Sharma, with kind
permission from Manson publishing.
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Differential diagnosis of partial villous atrophy

Giardiasis
Tropical sprue
Whipple's disease
Cow's milk intolerance
Zollinger-Ellison syndrome
Bacterial overgrowth
Hypogammaglobulinaemia
Radiation
Lymphoma
HIV enteropathy
Non steroidal anti-inflammatory drugs

SELF-ASSESEMENT

Question*

A 17 year old girl was referred to the gynaecologist with primary amenorrhoea. She had
been relatively well throughout her life. Her mother was concerned that she was not gaining
any weight despite eating well. She had been investigated for diabetes by the general
practitioner and was found to have a normal blood glucose. Apart from complaining of
intermittent headaches and feeling tired at the end of the day there were no other
symptoms. She was still at college. She had two brothers and a sister who were well. Her
sister was aged 14 and had just started menstruating.

On examination she measured 5 feet and weighed 40 kg. She was pale and had scanty
axillary and pubic hair. Breast development had just begun.

Investigations were as follows:

Reproduced from A Rapid Review of Clinical Medicine by Sanjay Sharma, with kind
permission from Manson publishing.
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FBC - Hb 9.8g/dl
- WCC 5 x 109/l
- Platelets 190 x 109/l
- MCV 104 fl
Blood film - Target cells, anisocytosis, macrocytes, poikilocytosis
Biochemistry - Sodium 137 mmol/l
- Potassium 4.1mmol/l
- Urea 3mmol/l
- Creatinine 78mmol/l
- Calcium 2.0 mmol/l
- Phosphate 0.75 mmol/l
- Albumin 37g/l
- AST 20 iu/l
- Alk Phos 300 iu/l
- Bilirubin 11mmol/l
Thyroid function - Thyroxine 100nmol/l
- TSH 2.0nmol/l

a. What is the cause of her amenorrhoea?

b. What is the most probable underlying diagnosis?

c. Give two possible explanations for the alkaline phosphatase level.

d. Give two tests you would perform to confirm the diagnosis.

*Answers can be viewed on the next page

Reproduced from A Rapid Review of Clinical Medicine by Sanjay Sharma, with kind
permission from Manson publishing.
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ANSWERS

a. Underweight due to malabsorption (Malabsorption syndrome)

b. Coeliac disease

c. i. Osteomalacia
ii. Patient in a growth spurt

d. i. Duodenal biopsy or Jejunal biopsy


ii. Anti endomyosium antibodies, Anti gliadin antibodies or Anti reticulin antibodies

The patient is short for her age. She has a macrocytic anaemic. The blood film reveals
hypochromasia, macrocytosis and target cells suggesting either isolated folate (or possibly
B12) deficiency or combined iron and folate deficiency.

The bone biochemistry is in keeping with Vitamin D deficiency.


The slightly low albumin level is indicative of poor nutritional status in this context.

Failure to grow or weight loss despite a normal appetite plus a combination of nutritional
deficiencies should always raise the question of a malabsorption syndrome. The lack of
secondary sexual characteristics and delayed menstruation in this patient may be explained
by the fact that she has yet to reach puberty either due to a constitutional delay or that
puberty has been delayed due to the malabsorption syndrome. Malabsorption syndromes
are a recognized cause of primary and secondary amenorrhoea in girls and young women
predominantly as a result of poor malnutrition causing profound weight loss.

Candidates may fall into the trap of diagnosing hypopituitarism in this case given the short
stature and absent secondary sexual characteristics, however, the diagnosis of
hypopituitarism fails to explain the normal thyroid function tests and the abnormal bone
biochemistry. Anaemia is a recognized feature of hypopituitarism. It is usually normochromic
normocytic but may be macro or microcytic.

Reproduced from A Rapid Review of Clinical Medicine by Sanjay Sharma, with kind
permission from Manson publishing.
www.medibyte.com  0208 297 9100  info@medibyte.com